"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYOM1"[ge - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227705	NM_003803.4(MYOM1):c.5001G>A (p.Glu1667=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 416035	NM_003803.4(MYOM1):c.4961C>T (p.Ser1654Leu)	MYOM1 (S1654L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 416037	NM_003803.4(MYOM1):c.4800G>A (p.Pro1600=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 454456	NM_003803.4(MYOM1):c.4764+10A>G	MYOM1	Single nucleotide variant (intron variant)	MYOM1-related disorder +1 more	GBenign/Likely benign
Select item 1127823	NM_003803.4(MYOM1):c.4743G>A (p.Val1581=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 416044	NM_003803.4(MYOM1):c.4740C>T (p.Asp1580=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 226825	NM_003803.4(MYOM1):c.4662C>T (p.Ala1554=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +4 more	GBenign
Select item 416034	NM_003803.4(MYOM1):c.4648+9A>T	MYOM1	Single nucleotide variant (intron variant)	MYOM1-related disorder +1 more	GBenign/Likely benign
Select item 1741529	NM_003803.4(MYOM1):c.4569G>A (p.Pro1523=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 226823	NM_003803.4(MYOM1):c.4358T>C (p.Met1453Thr)	MYOM1 (M1453T +1 more)	Single nucleotide variant (missense variant)	MYOM1-related disorder +4 more	GBenign
Select item 226822	NM_003803.4(MYOM1):c.4222G>A (p.Asp1408Asn)	MYOM1 (D1408N +1 more)	Single nucleotide variant (missense variant)	MYOM1-related disorder +4 more	GBenign
Select item 239575	NM_003803.4(MYOM1):c.4069+4A>C	MYOM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GBenign
Select item 1563550	NM_003803.4(MYOM1):c.3999C>T (p.Leu1333=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 1108181	NM_003803.4(MYOM1):c.3865-7A>C	MYOM1	Single nucleotide variant (intron variant)	MYOM1-related disorder +1 more	GLikely benign
Select item 525041	NM_003803.4(MYOM1):c.3813C>T (p.Gly1271=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 416039	NM_003803.4(MYOM1):c.3572A>G (p.Asn1191Ser)	MYOM1 (N1191S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 229025	NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln)	MYOM1 (R1183Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226818	NM_003803.4(MYOM1):c.3453T>A (p.Asp1151Glu)	MYOM1 (D1151E +1 more)	Single nucleotide variant (missense variant)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 454448	NM_003803.4(MYOM1):c.3412C>T (p.Arg1138Cys)	MYOM1 (R1138C +1 more)	Single nucleotide variant (missense variant)	MYOM1-related disorder +1 more	GBenign/Likely benign
Select item 1085393	NM_003803.4(MYOM1):c.3363G>A (p.Ala1121=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 3047471	NM_003803.4(MYOM1):c.3304-4C>T	MYOM1	Single nucleotide variant (intron variant)	MYOM1-related disorder	GLikely benign
Select item 416043	NM_003803.4(MYOM1):c.3207G>A (p.Pro1069=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 795212	NM_003803.4(MYOM1):c.2988C>T (p.Tyr996=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 220589	NM_003803.4(MYOM1):c.2727G>A (p.Pro909=)	MYOM1	Single nucleotide variant (synonymous variant +1 more)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 454439	NM_003803.4(MYOM1):c.2715A>G (p.Glu905=)	MYOM1	Single nucleotide variant (synonymous variant +1 more)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 3030913	NM_003803.4(MYOM1):c.2421T>C (p.Tyr807=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder	GLikely benign
Select item 454438	NM_003803.4(MYOM1):c.2385-9T>C	MYOM1	Single nucleotide variant (intron variant)	MYOM1-related disorder +1 more	GLikely benign
Select item 226812	NM_003803.4(MYOM1):c.2384+4A>T	MYOM1	Single nucleotide variant (intron variant)	MYOM1-related disorder +3 more	GBenign/Likely benign
Select item 226811	NM_003803.4(MYOM1):c.2210-4T>G	MYOM1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 239570	NM_003803.4(MYOM1):c.2181G>A (p.Thr727=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 226810	NM_003803.4(MYOM1):c.2179A>G (p.Thr727Ala)	MYOM1 (T727A)	Single nucleotide variant (missense variant)	MYOM1-related disorder +3 more	GBenign
Select item 226809	NM_003803.4(MYOM1):c.2110G>A (p.Glu704Lys)	MYOM1 (E704K)	Single nucleotide variant (missense variant)	MYOM1-related disorder +3 more	GBenign
Select item 227695	NM_003803.4(MYOM1):c.2064G>A (p.Thr688=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 227694	NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser)	MYOM1 (T688S)	Single nucleotide variant (missense variant)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 155822	NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala)	MYOM1 (P660A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 180694	NM_003803.4(MYOM1):c.1900+3A>C	MYOM1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GBenign
Select item 226807	NM_003803.4(MYOM1):c.1890G>A (p.Glu630=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 226804	NM_003803.4(MYOM1):c.1803C>T (p.Pro601=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 2630330	NM_003803.4(MYOM1):c.1768A>G (p.Met590Val)	MYOM1 (M590V)	Single nucleotide variant (missense variant)	MYOM1-related disorder	GUncertain significance
Select item 416047	NM_003803.4(MYOM1):c.1160C>T (p.Thr387Ile)	MYOM1 (T387I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 525006	NM_003803.4(MYOM1):c.977A>G (p.Tyr326Cys)	MYOM1 (Y326C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 226837	NM_003803.4(MYOM1):c.924C>A (p.Val308=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 416046	NM_003803.4(MYOM1):c.822C>T (p.Leu274=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 239581	NM_003803.4(MYOM1):c.684C>T (p.Ser228=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 226834	NM_003803.4(MYOM1):c.660T>C (p.Ser220=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +3 more	GBenign/Likely benign
Select item 226832	NM_003803.4(MYOM1):c.644C>T (p.Thr215Met)	MYOM1 (T215M)	Single nucleotide variant (missense variant)	MYOM1-related disorder +4 more	GBenign
Select item 226824	NM_003803.4(MYOM1):c.461C>T (p.Thr154Met)	MYOM1 (T154M)	Single nucleotide variant (missense variant)	MYOM1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 416036	NM_003803.4(MYOM1):c.432-10_432-8del	MYOM1	Microsatellite (intron variant)	MYOM1-related disorder +1 more	GBenign/Likely benign
Select item 454451	NM_003803.4(MYOM1):c.387A>G (p.Lys129=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GLikely benign
Select item 1079898	NM_003803.4(MYOM1):c.290+8G>A	MYOM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 454426	NM_003803.4(MYOM1):c.117C>T (p.Tyr39=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +2 more	GBenign/Likely benign
Select item 226835	NM_003803.4(MYOM1):c.66G>C (p.Val22=)	MYOM1	Single nucleotide variant (synonymous variant)	MYOM1-related disorder +4 more	GBenign
Select item 226833	NM_003803.4(MYOM1):c.64G>C (p.Val22Leu)	MYOM1 (V22L)	Single nucleotide variant (missense variant)	MYOM1-related disorder +4 more	GBenign
Select item 226839	NM_003803.4(MYOM1):c.-9G>A	MYOM1	Single nucleotide variant (5 prime UTR variant)	MYOM1-related disorder +2 more	GBenign

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Items: 54